Disease #03624 (EMPF (encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF)))

Official abbreviation EMPF
Name encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF)
OMIM ID -
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 9
Associated with 2 genes DNM1L, MFF
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2019-01-21 21:28:29 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00047314 26604000-Pat1 PubMed: Vanstone 2016, Journal: Vanstone 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Canada white - - - - EMPF see paper; developmental delay, refractory epilepsy, prolonged survival, no evidence of mitochondrial or peroxisomal dysfunction (blood and urine); EEG nonspecific, background slowing with frequent epileptiform activity rontal and central head regions; EM skeletal muscle showed subtle, nonspecific abnormalities of cristal organization; confocal microscopy of patient fibroblasts showed striking hyperfusion mitochondrial network, ... DNM1L DNM1L 1 1 Matthew Lines
00074478 - - - F - Spain - - - - - EMPF - DNM1L DNM1L 1 1 NeuroMeGen
00081042 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - EMPF Encephalopahty, lethal, due to defective m peroxisomal fission (OMIM:614388) DNM1L DNM1L 1 1 Daniel Trujillano
00100785 17460227-Pat1 PubMed: Waterham 2007, Journal: Waterham 2007 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) white, British 00y00m37d - - - EMPF see paper; microcephaly (HP:0000252), abnormal brain development (HP:0012443), optic atrophy (HP:0000648), optic hypoplasia (HP:0000609), persistent lactic acidemia (HP:0003128), mildly elevated plasma concentration of very-long-chain fatty acids (HP:0003455), ... DNM1L DNM1L 1 1 Johan den Dunnen
00100786 26992161-Pat1 PubMed: Sheffer 2016, Journal: Sheffer 2016 2-generation family, 1 affected, unaffected non-carrier parents/sibs M no Israel Arab, Moslem >02y - - - EMPF see paper; chronic neurological disorder, postnatal microcephaly, developmental delay, pain insensitivity; muscle biopsy disclosed decreased respirato ry chain complex IV activity, ... DNM1L DNM1L 1 1 Johan den Dunnen
00100787 26825290-FamPatA PubMed: Yoon 2016, Journal: Yoon 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Canada Filipino 00y00m21d - - - EMPF see paper; born from twin pregnancy 2nd twin died at 21w; 36w delivered by cesarean for non-reassuring fetal heart rate, ... DNM1L DNM1L 2 2 Johan den Dunnen
00100788 26825290-FamPatB PubMed: Yoon 2016, Journal: Yoon 2016 - M no Canada Filipino 00y00m08d - - - EMPF see paper; 37w cesarean due to fetal distress; birth profoundly hypotonic with absent respiratory effort required intubation and cardiopulmonary resuscitation for 12 minutes, ... DNM1L DNM1L 2 1 Johan den Dunnen
00218065 pt-ab - - - - Italy - - - - - EMPF - DNM1L DNM1L 1 1 Daniela Verrigni
00218066 pt-szy - - - - Italy - - - - - EMPF - DNM1L DNM1L 1 1 Daniela Verrigni
00218067 Pt-mos - - - - Italy - - - - - EMPF - DNM1L DNM1L 1 1 Daniela Verrigni
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